title: Alpha-aminoadipic aciduria: chemical and enzymatic studies.
abstract: A new case of alpha-aminoadipic aciduria had an apparent immunodeficiency and died at the age of 4 months. The urine contained large amounts of alpha-aminoadipate and smaller quantities of alpha-keto- and alpha-hydroxyadipate. Post mortem, the highest concentrations of alpha-aminoadipate were found in liver and kidney. Enzymatic studies on liver and cultured fibroblasts failed to demonstrate the expected deficiency of alpha-amino-adipate aminotransferase, a result perhaps explicable by the presence of cytoplasmic aminotransferase activity.
mesh_terms: D015074:2-Aminoadipic Acid / Q000097:blood / Q000652:urine*; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism; D000596:Amino Acids / Q000652:urine; D000600:Amino Acids, Dicarboxylic / Q000652:urine*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*
chemical_list: D000596:Amino Acids; D000600:Amino Acids, Dicarboxylic; D015074:2-Aminoadipic Acid